ETV6 (Transcription factor ETV6) variants and mutations

ETV6 (also known as Transcription factor ETV6) is a human protein-coding gene encoding a transcription factor protein. It normally restrains hematopoietic transcriptional programs and is important for blood-cell development and vascular biology. Germline loss-of-function variants can cause thrombocytopenia with leukemia predisposition, while numerous ETV6 fusion genes drive leukemias and other cancers. This analysis covers 888 ETV6 variants and mutations. Of these, 71% have computational variant effect predictions. Disease context includes thrombocytopenia 5, Thrombocytopenia, and acute myeloid leukemia. Example ETV6 variants include S2S, E3D, and T4I.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable ETV6 variants

Examples include S2S, E3D, T4I, T4S, P5P, A6D, A6V, Q7H. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.